(Q33751309)

29 July 2017

Structural and segregation analysis of the type II collagen gene (COL2A1) in some heritable chondrodysplasias (English)

1 reference

29 July 2017

Wordsworth P

1

1 reference

29 July 2017

Ogilvie D

2

1 reference

29 July 2017

Priestley L

3

1 reference

29 July 2017

Smith R

4

1 reference

29 July 2017

Wynne-Davies R

5

1 reference

29 July 2017

Sykes B

6

1 reference

29 July 2017

language of work or name

English

0 references

publication date

1 August 1988

1 reference

Journal of Medical Genetics

29 July 2017

1 reference

29 July 2017

25

1 reference

29 July 2017

8

1 reference

29 July 2017

521-527

1 reference

Chondro-osseous morphology and biochemistry in the skeletal dysplasias

29 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1080028

Lethal osteogenesis imperfecta congenita and a 300 base pair gene deletion for an alpha 1(I)-like collagen

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1080028

Pathogenic mechanisms in osteochondrodysplasias

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1080028

Isolation and characterization of a human collagen α 1(I)-like gene from a cosmid library

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1080028

Heritable diseases of collagen

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1080028

Cartilage collagen analysis in the chondrodystrophies.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1080028

A highly polymorphic region 3' to the human type II collagen gene.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1080028

Collagen and collagen gene disorders

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1080028

Identification and characterization of the human type II collagen gene (COL2A1)

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1080028

Chondrocalcin is identical with the C-propeptide of type II procollagen.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1080028

Pseudoachondroplasia: clinical diagnosis at different ages and comparison of autosomal dominant and recessive types. A review of 32 patients (26 kindreds).

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1080028

The prevalence of skeletal dysplasias. An estimate of their minimum frequency and the number of patients requiring orthopaedic care.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1080028

Evidence against the structural gene encoding type II collagen (COL2A1) as the mutant locus in achondroplasia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1080028

Exclusion of the alpha 1(II) cartilage collagen gene as the mutant locus in type IA osteogenesis imperfecta

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1080028

The severe recessive form of pseudoachondroplastic dysplasia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1080028

The tricho-rhino-phalangeal syndrome. A report of 14 cases in 7 kindreds.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1080028

Abnormal pattern of segment long spacing (SLS) cartilage collagen in diastrophic dysplasia

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2902229

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

International nomenclature of constitutional diseases of bone. Revision, May, 1977

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2902229

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Osteogenesis imperfecta is linked to both type I collagen structural genes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2902229

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

PMCID

1080028

1 reference

29 July 2017

1 reference